title: MBL2 single nucleotide polymorphism diversity among four ethnic groups as revealed by a bead-based liquid array profiling.
abstract: In the present work we established a rapid, cost-effective and high-throughput method for genotyping using a multiplexed microsphere-based suspension array platform - Luminex xMAP which enabled us to analyze 3 SNPs in the MBL2 gene promoter and 5' UTR, and 3 coding SNPs exon 1 haplotypes, associated with different levels of MBL2 expression. Using this system MBL2 diversity in four different ethnic groups, namely, Asian (Japanese), Caucasian, Hispanic and African-American-assessed. Results showed significant variability in terms of allele, genotype, and haplotype distribution. Characteristic MBL haplotype patterns were defined for each ethnic group. A prevalence of haplotypes coding functional proteins capable of complement activation and pathogen opsonization was observed. Regardless of the significant diversity of individual haplotypes, a high, almost similar (25-28%) proportion of haplotypes associated with MBL deficiency was found in the four ethic groups. The proportion of individuals homozygous for the haplotypes resulting in complete MBL2 deficiency was also significant (2-10%). Considering the role of MBL2 in innate immunity and as a clinically relevant marker, the genotyping approach developed and the knowledge of the genetic variation in different ethnic groups will be relevant to future medical genetic studies.
authors.affiliation: Central Laboratory of Clinical Immunology, University Hospital Alexandrovska, Sofia, Bulgaria.
authors.forename: Milena
authors.initials: M
authors.lastname: Ivanova
authors.forename: Ju
authors.initials: J
authors.lastname: Ruiqing
authors.forename: Masaki
authors.initials: M
authors.lastname: Matsushita
authors.forename: Takahiro
authors.initials: T
authors.lastname: Ogawa
authors.forename: Shintaro
authors.initials: S
authors.lastname: Kawai
authors.forename: Naoya
authors.initials: N
authors.lastname: Ochiai
authors.forename: Velizar
authors.initials: V
authors.lastname: Shivarov
authors.forename: Etsuko
authors.initials: E
authors.lastname: Maruya
authors.forename: Hiroh
authors.initials: H
authors.lastname: Saji
mesh_terms: D020121:5' Untranslated Regions; D001327:Autoimmune Diseases / Q000208:ethnology / Q000235:genetics / Q000276:immunology; D005091:Exons; D020869:Gene Expression Profiling; D020022:Genetic Predisposition to Disease; D006801:Humans; D007113:Immunity, Innate; D018189:Immunomagnetic Separation; D007239:Infections / Q000208:ethnology / Q000235:genetics / Q000276:immunology; D037601:Mannose-Binding Lectin / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D044469:Racial Groups; D014481:United States / Q000453:epidemiology
chemical_list: D020121:5' Untranslated Regions; C445619:MBL2 protein, human; D037601:Mannose-Binding Lectin